List of works - Shoji Ichikawa

Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults

scientific article

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

scientific article published on 29 October 2018

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.

scientific article published on 08 August 2008

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

Contribution of the LRP5 gene to normal variation in peak BMD in women

scientific article published on 25 October 2004

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects

scientific article

Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women

scientific article

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Human ALOX12, but Not ALOX15, Is Associated With BMD in White Men and Women

article

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women

scientific article published on October 2008

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

scientific article published on 18 June 2008

Reticular dysgenesis caused by an intronic pathogenic variant in AK2

scientific article published on 12 June 2020

SIBLING family genes and bone mineral density: association and allele-specific expression in humans

scientific article

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

scientific article

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions

scientific article

List of works by Shoji Ichikawa

Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies

CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men.

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

Contribution of the LRP5 gene to normal variation in peak BMD in women

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects

Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Human ALOX12, but Not ALOX15, Is Associated With BMD in White Men and Women

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

Reticular dysgenesis caused by an intronic pathogenic variant in AK2

SIBLING family genes and bone mineral density: association and allele-specific expression in humans

Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene

regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions